GENE MUTATIONS = POINT MUTATIONS
Task 1
Turn your name into DNA sequence using table below.
Our Alphabet Amino Acid Name Codon
A Alanine GCA GCC
B GCG GCT
C Cysteine TGC TGT
D Aspartic acid GAC GAT
E Glutamic acid GAA GAG
F Phenylalanine TTC TTT
G Glycine GGA GGC
H Histidine CAC CAT
I Isoleucine ATA ATC ATT
J GGG GGT
K Lysine AAA AAG
L Leucine TTA TTG CTA CTC CTG CTT
M Methionine ATG
N Asparagine AAC AAT
O CCG CCT
P Proline CCA CCC
Q Glutamine CAA CAG
R Arginine AGA AGG CGA CGC CGG CGT
S Serine AGC AGT TCA TCC
T Threonine ACA ACC
U ACG ACT (codon for Threonine)
V Valine GTC GTG
W Tryptophan TGG
X GTA GTT
Y Tyrosine TAC TAT
Z TCG TCT
Your name in DNA sequences: :…………………………………….
Task 2
Using your notes, do the following mutations
1. Substitution
a. missense –changes one nucleotide in a codon, which can result in a completely different amino
acid being added to the protein; e.g. Sickle cell anaemia
Your DNA:…………………………………….
Phenotype of your DNA after missense: :…………………………………….
b. nonsense –changes the codon sequence for one amino to a STOP codon (TAA, TGA, TAG) that
stops the cell from adding more amino acids to the protein; it shortens the protein; e.g.
Thalassaemia
Your DNA:…………………………………….
Phenotype of your DNA after nonsense: :…………………………………….
c. silent substitution - changes the codon sequence for one amino to another codon of the same
amino acid
Your DNA:…………………………………….
Phenotype of your DNA after silent substitution: :…………………………………….
2. Deletion
Your DNA:…………………………………….
Phenotype of your DNA after deletion: :…………………………………….
3. Insertion
Your DNA:…………………………………….
Phenotype of your DNA after insertion: :…………………………………….